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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Clinical assessment of HNF1A and GCK variants and identification of a novel mutation causing MODY2
Ashley H Shoemaker1, Jozef Zienkiewicz, Daniel J Moore
1Department of Pediatrics, Vanderbilt University, Nashville, TN 37232, USA. ashley.h.shoemaker@vanderbilt.edu
Diabetes Research and Clinical Practice
|February 21, 2012
Abstract:
A child with impaired fasting glucose was found to be heterozygous for a novel variant at c.659G>A in GCK and a variant at c.1663C>T in HNF1A. Structural modeling and clinical correlation suggests that the GCK variant causes monogenic diabetes while the variant in HNF1A is unlikely to be pathogenic.
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